Gene: NF1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4763
Gene Symbol: NF1
NF1 		0.100 CausalMutation group CLINVAR Emerging genotype-phenotype relationships in patients with large NF1 deletions. 28213670 2017
Entrez Id: 4763
Gene Symbol: NF1
NF1 		0.100 CausalMutation group CLINVAR Neurofibromatosis Type 1-Associated Inflammatory Polyp of the Gastrointestinal Tract. 27170677 2017
Entrez Id: 4763
Gene Symbol: NF1
NF1 		0.100 CausalMutation group CLINVAR Simultaneous juvenile polyposis syndrome and neurofibromatosis type 1. 25951773 2016
Entrez Id: 4763
Gene Symbol: NF1
NF1 		0.100 CausalMutation group CLINVAR Growth Hormone Deficiency in a Child with Neurofibromatosis-Noonan Syndrome. 26758488 2016
Entrez Id: 4763
Gene Symbol: NF1
NF1 		0.100 CausalMutation group CLINVAR Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only. 27322474 2016
Entrez Id: 4763
Gene Symbol: NF1
NF1 		0.100 CausalMutation group CLINVAR High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation. 26178382 2015
Entrez Id: 4763
Gene Symbol: NF1
NF1 		0.100 CausalMutation group CLINVAR Use of imaging to evaluate course of the carotid artery in surgery for velopharyngeal insufficiency. 25324428 2015
Entrez Id: 4763
Gene Symbol: NF1
NF1 		0.100 CausalMutation group CLINVAR The use of next-generation sequencing in molecular diagnosis of neurofibromatosis type 1: a validation study. 25325900 2014
Entrez Id: 4763
Gene Symbol: NF1
NF1 		0.100 CausalMutation group CLINVAR A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands. 23656349 2014
Entrez Id: 4763
Gene Symbol: NF1
NF1 		0.100 CausalMutation group CLINVAR Juvenile-like (inflammatory/hyperplastic) mucosal polyps of the gastrointestinal tract in neurofibromatosis type 1. 24219125 2014
Entrez Id: 4763
Gene Symbol: NF1
NF1 		0.100 CausalMutation group CLINVAR Increased rate of missense/in-frame mutations in individuals with NF1-related pulmonary stenosis: a novel genotype-phenotype correlation. 23047742 2013
Entrez Id: 4763
Gene Symbol: NF1
NF1 		0.100 CausalMutation group CLINVAR Nearly a third of abnormalities found after first-trimester screening are different than expected: 10-year experience from a single center. 23354915 2013
Entrez Id: 4763
Gene Symbol: NF1
NF1 		0.100 CausalMutation group CLINVAR Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis. 23812910 2013
Entrez Id: 4763
Gene Symbol: NF1
NF1 		0.100 CausalMutation group CLINVAR Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations? 23244495 2012
Entrez Id: 4763
Gene Symbol: NF1
NF1 		0.100 CausalMutation group CLINVAR Pheochromocytoma and paraganglioma: understanding the complexities of the genetic background. 22429592 2012
Entrez Id: 4763
Gene Symbol: NF1
NF1 		0.100 CausalMutation group CLINVAR Increased risk of breast cancer in women with NF1. 23165953 2012
Entrez Id: 4763
Gene Symbol: NF1
NF1 		0.100 CausalMutation group CLINVAR Evolution and functional impact of rare coding variation from deep sequencing of human exomes. 22604720 2012
Entrez Id: 4763
Gene Symbol: NF1
NF1 		0.100 CausalMutation group CLINVAR Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas. 22041710 2011
Entrez Id: 4763
Gene Symbol: NF1
NF1 		0.100 CausalMutation group CLINVAR Legius syndrome in fourteen families. 21089071 2011
Entrez Id: 4763
Gene Symbol: NF1
NF1 		0.100 CausalMutation group CLINVAR Corpus callosum morphology and its relationship to cognitive function in neurofibromatosis type 1. 20142468 2010
Entrez Id: 4763
Gene Symbol: NF1
NF1 		0.100 CausalMutation group CLINVAR Neurofibromatosis type 1. 19539839 2009
Entrez Id: 4763
Gene Symbol: NF1
NF1 		0.100 CausalMutation group CLINVAR Neurofibromatosis type 1 revisited. 19117870 2009
Entrez Id: 4763
Gene Symbol: NF1
NF1 		0.100 CausalMutation group CLINVAR Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome. 19920235 2009
Entrez Id: 4763
Gene Symbol: NF1
NF1 		0.100 CausalMutation group CLINVAR Leukemia-associated NF1 inactivation in patients with pediatric T-ALL and AML lacking evidence for neurofibromatosis. 18172006 2008
Entrez Id: 4763
Gene Symbol: NF1
NF1 		0.100 CausalMutation group CLINVAR Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. 17105749 2007